A novel missense mutation (G43S) in the switch I region of Rab27A causing Griscelli syndrome (Q33327321)

25 July 2017

title

A novel missense mutation (G43S) in the switch I region of Rab27A causing Griscelli syndrome (English)

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25 July 2017

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Jens M Hertz

6

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Henrik Hasle

object named as

Henrik Hasle

7

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Olivier De Wever

4

object named as

Olivier De Wever

1 reference

25 July 2017

Wendy Westbroek

1

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25 July 2017

Maya Tuchman

2

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25 July 2017

Bradford Tinloy

3

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25 July 2017

Thierry Vilboux

5

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25 July 2017

Carsten Heilmann

8

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25 July 2017

Amanda Helip-Wooley

9

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25 July 2017

Robert Kleta

10

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25 July 2017

William A Gahl

11

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25 July 2017

publication date

7 April 2008

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Molecular Genetics and Metabolism

25 July 2017

published in

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25 July 2017

volume

94

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25 July 2017

issue

2

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25 July 2017

page(s)

248-254

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Melanosomes--dark organelles enlighten endosomal membrane transport

25 July 2017

cites work

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'Should I stay or should I go?': myosin V function in organelle trafficking

28 July 2018

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Structural basis for Rab11-mediated recruitment of FIP3 to recycling endosomes

28 July 2018

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Rabs and their effectors: achieving specificity in membrane traffic

28 July 2018

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The quest for the mechanism of melanin transfer

28 July 2018

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Thematic review series: lipid posttranslational modifications. geranylgeranylation of Rab GTPases.

28 July 2018

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Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A

28 July 2018

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Rab27b is up-regulated in human Griscelli syndrome type II melanocytes and linked to the actin cytoskeleton via exon F-Myosin Va transcripts

28 July 2018

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Rab GTPases and myosin motors in organelle motility

28 July 2018

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Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1)

28 July 2018

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Interactions of human Myosin Va isoforms, endogenously expressed in human melanocytes, are tightly regulated by the tail domain

28 July 2018

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Characterization of the molecular defects in Rab27a, caused by RAB27A missense mutations found in patients with Griscelli syndrome

28 July 2018

1 reference

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Interorganellar regulation of lysosome positioning by the Golgi apparatus through Rab34 interaction with Rab-interacting lysosomal protein

28 July 2018

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Treatment of hemophagocytic lymphohistiocytosis with HLH-94 immunochemotherapy and bone marrow transplantation

28 July 2018

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Slac2-c (synaptotagmin-like protein homologue lacking C2 domains-c), a novel linker protein that interacts with Rab27, myosin Va/VIIa, and actin

28 July 2018

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Synaptotagmin-like protein (Slp) homology domain 1 of Slac2-a/melanophilin is a critical determinant of GTP-dependent specific binding to Rab27A.

28 July 2018

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Evidence that Griscelli syndrome with neurological involvement is caused by mutations in RAB27A, not MYO5A

28 July 2018

1 reference

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Rab27a is an essential component of melanosome receptor for myosin Va

28 July 2018

1 reference

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Slac2-a/melanophilin, the missing link between Rab27 and myosin Va: implications of a tripartite protein complex for melanosome transport

28 July 2018

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Mutations in Mlph, encoding a member of the Rab effector family, cause the melanosome transport defects observed in leaden mice

28 July 2018

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Rab27a: A key to melanosome transport in human melanocytes

28 July 2018

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A mutation in Rab27a causes the vesicle transport defects observed in ashen mice

28 July 2018

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Griscelli disease maps to chromosome 15q21 and is associated with mutations in the myosin-Va gene

28 July 2018

1 reference

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Brain myosin V is a synaptic vesicle-associated motor protein: evidence for a Ca2+-dependent interaction with the synaptobrevin-synaptophysin complex

28 July 2018

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Myosin V associates with melanosomes in mouse melanocytes: evidence that myosin V is an organelle motor

28 July 2018

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The dilute-lethal (dl) gene attacks a Ca2+ store in the dendritic spine of Purkinje cells in mice

28 July 2018

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Endoplasmic reticulum is missing in dendritic spines of Purkinje cells of the ataxic mutant rat.

28 July 2018

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Novel myosin heavy chain encoded by murine dilute coat colour locus

28 July 2018

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A syndrome associating partial albinism and immunodeficiency

28 July 2018

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Diminished climbing fiber innervation of Purkinje cells in the cerebellum of myosin Va mutant mice and rats

28 July 2018

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Functional analysis of slac2-a/melanophilin as a linker protein between Rab27A and myosin Va in melanosome transport.

31 October 2018

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Griscelli syndrome: characterization of a new mutation and rescue of T-cytotoxic activity by retroviral transfer of RAB27A gene

31 October 2018

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Missense mutations in the globular tail of myosin-Va in dilute mice partially impair binding of Slac2-a/melanophilin

31 October 2018

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Identification of an organelle receptor for myosin-Va

31 October 2018

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Rab27a is required for regulated secretion in cytotoxic T lymphocytes

31 October 2018

1 reference

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Rab27a enables myosin Va-dependent melanosome capture by recruiting the myosin to the organelle.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2430933

Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2430933

Myosin V colocalizes with melanosomes and subcortical actin bundles not associated with stress fibers in human epidermal melanocytes.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2430933

A kindred with Griscelli disease: spectrum of neurological involvement

31 October 2018

1 reference

Crossref

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.02.009

Rab27a and MyoVa are the primary Mlph interactors regulating melanosome transport in melanocytes

7 January 2021

1 reference

Crossref

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.02.009

Griscelli syndrome without hemophagocytosis in an eleven-year-old girl: Expanding the phenotypic spectrum ofRab27Amutations in humans

7 January 2021

1 reference

Crossref

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.02.009

10.1016/J.YMGME.2008.02.009

7 January 2021

Identifiers

DOI

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25 July 2017

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25 July 2017

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